One Mom’s Story of Spinal Muscular Atrophy and What YOU Can Do to Help

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Today we want to share a very special post by mom Shannon Terry, whose beautiful little girl was born with a rare genetic condition called Spinal Muscular Atrophy. At the bottom of this post, Shannon shares ways you can help and give hope to their family and all families coping with SMA.

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Reagan Harper Sinkiewicz was born December 29, 2012. Beautiful from birth, she was the perfect baby. FYI, we still think she’s perfect even though her body begs to differ. A few months after her birth, we began to notice some irregularities in Reagan. While other infants her age were eating well, gaining weight, and learning to use their developing muscles, Reagan had the opposite. Having never been around newborns, my husband and I attributed her “floppiness” to her being a late bloomer.

After a routine trip to the pediatrician highlighted these abnormalities, a series of tests were ordered. Weeks went by and test after test came back negative. Finally, we had a referral to neurologist for more extensive testing. He suggested a test for a condition known as Spinal Muscular Atrophy (SMA). After reading up on it, we hoped and prayed that the results would turn out negative. Miraculously this specific neurologist said she did not have SMA. We rejoiced! The worst possible scenario had been lifted off of our shoulders. We had six weeks of naive bliss.

After this diagnosis, we were referred to another hospital with more specialists. They took one look at Reagan and immediately ordered a test for SMA. We were confused by this. Hadn’t she just tested negative for this genetic disease? A team of five doctors, nurses and a social worker came into the room. I knew immediately what was happening. It was July 10, 2013 – the worst day of our lives.

Reagan, our beautiful baby girl, had Type 1 Spinal Muscular Atrophy. We were crushed by the diagnosis as we thought it was an automatic death sentence. Come to find out, SMA comes in several forms and Reagan was originally tested for the rarest form of SMA – a condition known as SMARD (SMA with Respiratory Distress). Our joy that she didn’t have this condition was now turned to the painful realization that our baby girl had just been given a short time to live.

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Type 1 SMA is a severe genetic condition that causes an infant to slowly atrophy. Most infants with this condition show low muscle tone early in life and slowly lose whatever skills they have attained. SMA is like ALS but in babies and young children. In the most basic not-so-scientific terms, its a genetic disease effecting the motor neurons that subsequently results in extreme muscle atrophy. Unfortunately, that includes all skeletal muscle so the strength losses are significant. If no interventions are taken, most children die before their first birthdays. A rare few live until their second birthday. This brought a whole new bout of fear with it. To date there is no cure.

Shortly after her diagnosis, Reagan’s symptoms worsened. Overnight, she lost her ability to swallow; she was in respiratory distress because her chest muscles were weak; and she spent weeks in the hospital trying to gain weight. In August, she had her first surgery to equip her with a feeding tube, in hopes that she can maintain as healthy of a life as possible.

The Dr. that diagnosed her went the extra mile to give us hope. He informed me that ISIS-Pharmaceuticals was dosing infants under seven months with a very promising drug. For the next few weeks I was on a mission… As you know there is no drug, supplement or cure-all on the planet that can mimic the ferocious, unrelenting drive of a mother trying to save her child. We tried every avenue to get her in the trial then but it just wasn’t enough.
Don’t get me wrong, Reagan has a beautiful life. My husband quit his job to take care of her at home. We enjoy the simplest of things and are thankful for all that we have. Every morning we pray a prayer of gratitude that we are still together. We’ve learned that quality of life is a hugely personal interpretation. As long as Reagan is fighting, we will fight for her. Granted, she is fed through a tube, spends 90% of her time laying down and is on a ventilator, but she is a smiley, bright, beautiful child that shows no signs of pain. She wants to live!
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ISIS/Biogen put out a laughable press release educating us on the approval status. Whereas I understand and respect the process I am pleading with whomever will listen to let us try this drug before it’s approved. Time is not on our side. We have no further medical interventions available. SMA is a cruel and vile disease that robs us of many things. It will not take our joy as a family, our love and appreciation for Reagan – our greatest gift, or our unyielding warrior spirit.
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Please join our fight – for awareness, for hope, for a cure.
It’s easy to help!
SIGN and join the movement in urging ISIS-Pharmaceuticals to apply with the FDA for Accelerated Access. Data from completed phases of the clinical trial have shown positive safety results, tolerance of dose and delivery method, and significant improvements in motor function making this drug primed for Accelerated Access. Let’s get these kids the help they need! >> https://www.change.org/p/dr-stan-crooke-kristina-bowyer-accelerated-access-of-isis-smnrx-for-spinal-muscular-atrophy-sma?recruiter=396537736&utm_source=share_for_starters&utm_medium=copyLink
DONATE and find out more: SMA is the number one genetic killer of infants, and one in forty people carry the recessive gene that causes this disease. Though the disease is terminal right now, the National Institute of Health says that they are closer to finding a cure for this genetic disease than any other. The FDA recently fast-tracked a gene therapy program that could cure this disease. With your help, we can find a cure and save Reagan and thousands of infants and children like her. To help this effort, please make a tax deductible donation to the Getty Owl Foundation at www.gettyowl.org or by mail.

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